Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01473:Fcho1'

88357

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fcho1

Ensembl Gene

ENSMUSG00000070000

Gene Name

FCH domain only 1

Synonyms

3322402E17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

IGL01473

Quality Score

Status

Chromosome

Chromosomal Location

72161031-72178360 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72164782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 500 (P500S)

Ref Sequence

ENSEMBL: ENSMUSP00000117606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093444] [ENSMUST00000136640] [ENSMUST00000146100] [ENSMUST00000153800]

AlphaFold

Q8K285

Predicted Effect

probably benign
Transcript: ENSMUST00000093444
AA Change: P500S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: P500S

Domain	Start	End	E-Value	Type
FCH	6	92	2.05e-21	SMART
low complexity region	334	351	N/A	INTRINSIC
low complexity region	364	382	N/A	INTRINSIC
low complexity region	446	466	N/A	INTRINSIC
low complexity region	567	576	N/A	INTRINSIC
Pfam:muHD	610	872	4.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123425

SMART Domains

Protein: ENSMUSP00000123631
Gene: ENSMUSG00000070000

Domain	Start	End	E-Value	Type
low complexity region	52	70	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126455

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127005

Predicted Effect

probably benign
Transcript: ENSMUST00000136640

SMART Domains

Protein: ENSMUSP00000119273
Gene: ENSMUSG00000070000

Domain	Start	End	E-Value	Type
FCH	6	92	2.05e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143699

Predicted Effect

probably benign
Transcript: ENSMUST00000146100
AA Change: P500S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: P500S

Domain	Start	End	E-Value	Type
FCH	6	92	2.05e-21	SMART
low complexity region	334	351	N/A	INTRINSIC
low complexity region	364	382	N/A	INTRINSIC
low complexity region	446	466	N/A	INTRINSIC
low complexity region	567	576	N/A	INTRINSIC
Pfam:muHD	610	872	1.4e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149363

Predicted Effect

probably benign
Transcript: ENSMUST00000153800

SMART Domains

Protein: ENSMUSP00000116135
Gene: ENSMUSG00000070000

Domain	Start	End	E-Value	Type
FCH	6	92	2.05e-21	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	C	16: 29,135,542 (GRCm39)	Y350C	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Clcn1	C	A	6: 42,268,637 (GRCm39)	A181D	probably damaging	Het
Cylc1	G	T	X: 110,166,449 (GRCm39)	K243N	unknown	Het
Dsp	A	G	13: 38,351,547 (GRCm39)	Y122C	probably damaging	Het
Exoc5	A	G	14: 49,251,751 (GRCm39)	V665A	possibly damaging	Het
Flg2	A	G	3: 93,110,327 (GRCm39)	E785G	unknown	Het
Fpr1	A	G	17: 18,097,954 (GRCm39)	S12P	possibly damaging	Het
Hydin	A	T	8: 111,038,792 (GRCm39)	M177L	probably benign	Het
Hydin	G	T	8: 111,081,585 (GRCm39)	G327V	probably damaging	Het
Itga10	G	A	3: 96,554,957 (GRCm39)	G97E	probably damaging	Het
Khdc1c	T	A	1: 21,439,130 (GRCm39)	Y39N	possibly damaging	Het
Lrp1b	T	G	2: 40,501,498 (GRCm39)	T202P	probably damaging	Het
Marchf10	T	C	11: 105,280,431 (GRCm39)	K618R	probably damaging	Het
Mdc1	C	A	17: 36,158,912 (GRCm39)	L431I	probably benign	Het
Mmp17	A	G	5: 129,683,472 (GRCm39)	D536G	probably benign	Het
Myh8	G	A	11: 67,192,651 (GRCm39)		probably null	Het
Odad3	C	A	9: 21,906,675 (GRCm39)		probably null	Het
Pop4	A	G	7: 37,963,820 (GRCm39)	V154A	probably benign	Het
Ppp1r13l	C	T	7: 19,109,193 (GRCm39)	R608C	probably damaging	Het
Prss36	T	C	7: 127,543,873 (GRCm39)	H166R	probably damaging	Het
Rab11fip3	C	T	17: 26,287,709 (GRCm39)	R148Q	possibly damaging	Het
Rbm39	T	A	2: 156,014,899 (GRCm39)	R49*	probably null	Het
S100a11	T	C	3: 93,433,413 (GRCm39)	C86R	probably damaging	Het
Skint7	T	C	4: 111,839,402 (GRCm39)	I232T	probably damaging	Het
Smchd1	G	A	17: 71,696,745 (GRCm39)	T1210I	probably benign	Het
Speg	C	T	1: 75,404,929 (GRCm39)	T2907I	possibly damaging	Het
Spz1	A	T	13: 92,711,764 (GRCm39)	C237*	probably null	Het
Sun3	G	T	11: 8,979,394 (GRCm39)	D42E	probably benign	Het
Tgds	C	T	14: 118,365,626 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,904,675 (GRCm39)	D1270N	probably damaging	Het
Vmn2r78	A	C	7: 86,569,520 (GRCm39)	T138P	possibly damaging	Het
Wdfy1	T	C	1: 79,685,182 (GRCm39)	I351V	probably benign	Het

Other mutations in Fcho1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Fcho1	APN	8	72,166,167 (GRCm39)	nonsense	probably null
IGL01291:Fcho1	APN	8	72,165,191 (GRCm39)	missense	probably benign	0.08
IGL02021:Fcho1	APN	8	72,173,919 (GRCm39)	missense	probably benign	0.06
IGL02086:Fcho1	APN	8	72,169,444 (GRCm39)	missense	probably damaging	1.00
IGL02808:Fcho1	APN	8	72,165,185 (GRCm39)	missense	possibly damaging	0.89
IGL03146:Fcho1	APN	8	72,170,074 (GRCm39)	splice site	probably benign
IGL03267:Fcho1	APN	8	72,164,943 (GRCm39)	unclassified	probably benign
cameo	UTSW	8	72,169,507 (GRCm39)	missense	possibly damaging	0.92
Lesser	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
Sidekick	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
ANU05:Fcho1	UTSW	8	72,165,191 (GRCm39)	missense	probably benign	0.08
R0003:Fcho1	UTSW	8	72,161,597 (GRCm39)	missense	probably damaging	1.00
R0010:Fcho1	UTSW	8	72,162,643 (GRCm39)	missense	probably damaging	1.00
R0020:Fcho1	UTSW	8	72,169,514 (GRCm39)	missense	probably benign	0.11
R0363:Fcho1	UTSW	8	72,170,134 (GRCm39)	missense	probably damaging	1.00
R0457:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0485:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0501:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0502:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0551:Fcho1	UTSW	8	72,164,818 (GRCm39)	missense	probably benign	0.06
R0583:Fcho1	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
R0584:Fcho1	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
R0585:Fcho1	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
R0612:Fcho1	UTSW	8	72,168,168 (GRCm39)	missense	probably damaging	1.00
R0614:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0647:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0841:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0842:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1034:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1036:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1399:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1466:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1466:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1618:Fcho1	UTSW	8	72,163,047 (GRCm39)	missense	probably damaging	0.98
R1754:Fcho1	UTSW	8	72,163,890 (GRCm39)	missense	probably benign
R1793:Fcho1	UTSW	8	72,161,666 (GRCm39)	nonsense	probably null
R2073:Fcho1	UTSW	8	72,163,133 (GRCm39)	missense	probably damaging	0.98
R2177:Fcho1	UTSW	8	72,164,905 (GRCm39)	missense	probably damaging	1.00
R4072:Fcho1	UTSW	8	72,163,013 (GRCm39)	missense	probably damaging	0.99
R4074:Fcho1	UTSW	8	72,163,013 (GRCm39)	missense	probably damaging	0.99
R4076:Fcho1	UTSW	8	72,163,013 (GRCm39)	missense	probably damaging	0.99
R4606:Fcho1	UTSW	8	72,165,124 (GRCm39)	missense	probably benign
R4732:Fcho1	UTSW	8	72,169,439 (GRCm39)	missense	probably benign	0.00
R4733:Fcho1	UTSW	8	72,169,439 (GRCm39)	missense	probably benign	0.00
R4860:Fcho1	UTSW	8	72,163,125 (GRCm39)	missense	probably benign	0.04
R4860:Fcho1	UTSW	8	72,163,125 (GRCm39)	missense	probably benign	0.04
R5082:Fcho1	UTSW	8	72,169,829 (GRCm39)	missense	possibly damaging	0.69
R5083:Fcho1	UTSW	8	72,169,820 (GRCm39)	missense	probably benign	0.00
R5185:Fcho1	UTSW	8	72,167,600 (GRCm39)	unclassified	probably benign
R6025:Fcho1	UTSW	8	72,165,217 (GRCm39)	splice site	probably null
R6624:Fcho1	UTSW	8	72,162,015 (GRCm39)	missense	probably damaging	0.99
R6875:Fcho1	UTSW	8	72,167,069 (GRCm39)	splice site	probably null
R7069:Fcho1	UTSW	8	72,163,141 (GRCm39)	splice site	probably null
R7476:Fcho1	UTSW	8	72,166,190 (GRCm39)	missense	probably damaging	1.00
R7512:Fcho1	UTSW	8	72,169,507 (GRCm39)	missense	possibly damaging	0.92
R7951:Fcho1	UTSW	8	72,164,920 (GRCm39)	missense	probably benign	0.00
R8699:Fcho1	UTSW	8	72,162,277 (GRCm39)	missense	possibly damaging	0.63
R8938:Fcho1	UTSW	8	72,169,790 (GRCm39)	missense	possibly damaging	0.96
R9090:Fcho1	UTSW	8	72,163,068 (GRCm39)	missense	possibly damaging	0.80
R9117:Fcho1	UTSW	8	72,164,712 (GRCm39)	missense	possibly damaging	0.87
R9119:Fcho1	UTSW	8	72,164,712 (GRCm39)	missense	possibly damaging	0.87
R9271:Fcho1	UTSW	8	72,163,068 (GRCm39)	missense	possibly damaging	0.80
R9433:Fcho1	UTSW	8	72,169,468 (GRCm39)	missense	probably benign	0.03
R9447:Fcho1	UTSW	8	72,169,913 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18